Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4774 | chr18 | 49097513 | C | T |
c.1914G>A
|
p.Val638=
|
- | 3.0 |
|
B | |
| 6792 | chr18 | 50272669 | G | A |
c.1778+8C>T
|
-
|
- | 3.0 |
|
B | |
| 25579 | chr18 | 50272752 | A | AACACCATAGGTCAATGTGGTTGTTGGGGCTACAGCAGGGTCAGGGC |
c.1716+26_1717-15dup
|
-
|
- | 3.0 |
|
B | |
| 25855 | chr18 | 50272821 | G | A |
c.1716+3C>T
|
-
|
3.0 |
|
B | ||
| 24851 | chr18 | 50273673 | C | T |
c.1337G>A
|
p.Gly446Asp
|
3.0 |
|
B | ||
| 1654 | chr18 | 50273678 | ACCTGCTT | A |
c.1325_1331del
|
p.Glu442ValfsTer46
|
- | 3.0 |
|
B | |
| 7387 | chr18 | 50273794 | G | A |
c.1216C>T
|
p.Arg406Ter
|
3.0 |
|
B | ||
| 2277 | chr18 | 50275209 | T | G |
c.829A>C
|
p.Lys277Gln
|
- | 3.0 |
|
B | |
| 27483 | chr18 | 50275261 | A | G |
c.793-16T>C
|
-
|
- | 3.0 |
|
B | |
| 20822 | chr18 | 50275392 | G | A |
c.793-147C>T
|
-
|
3.0 |
|
B | ||
| 16305 | chr18 | 50275431 | C | T |
c.792+169G>A
|
-
|
3.0 |
|
B | ||
| 23399 | chr18 | 50275602 | G | A |
c.790C>T
|
p.Arg264Trp
|
3.0 |
|
B | ||
| 3336 | chr18 | 50275650 | G | A |
c.742C>T
|
p.Arg248Cys
|
3.0 |
|
B | ||
| 3101 | chr18 | 50275652 | G | A |
c.740C>T
|
p.Pro247Leu
|
- | 3.0 |
|
B | |
| 11091 | chr18 | 50275726 | G | C |
c.666C>G
|
p.Ser222Arg
|
- | 3.0 |
|
B | |
| 16842 | chr18 | 50275736 | CG | C |
c.664-9del
|
-
|
3.0 |
|
B | ||
| 23910 | chr18 | 50275842 | A | G |
c.656T>C
|
p.Val219Ala
|
- | 3.0 |
|
B | |
| 2502 | chr18 | 50275867 | C | T |
c.631G>A
|
p.Glu211Lys
|
- | 3.0 |
|
B | |
| 7652 | chr18 | 50275971 | C | G |
c.527G>C
|
p.Cys176Ser
|
- | 3.0 |
|
B | |
| 23097 | chr18 | 50276397 | C | G |
c.497G>C
|
p.Arg166Pro
|
- | 3.0 |
|
B |